A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2572392



Internal ID8635950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:70848344..70849752hg38UCSC Ensembl
Outerchr9:73463260..73464668hg19UCSC Ensembl
Outerchr9:72653080..72654488hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg381409
hg191409
hg181409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5332895
SamplesNA18507
Known GenesTRPM3
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2572392
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer